Whole Exome Sequencing Identifies a Troponin T Mutation Hot Spot in Familial Dilated Cardiomyopathy

Dilated cardiomyopathy (DCM) commonly causes heart failure and shows extensive genetic heterogeneity that may be amenable to newly developed next-generation DNA sequencing of the exome. In this study we report the successful use of exome sequencing to identify a pathogenic variant in the TNNT2 gene...

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Detalles Bibliográficos
Autores principales: Campbell, Nzali, Sinagra, Gianfranco, Jones, Kenneth L., Slavov, Dobromir, Gowan, Katherine, Merlo, Marco, Carniel, Elisa, Fain, Pamela R., Aragona, Pierluigi, Di Lenarda, Andrea, Mestroni, Luisa, Taylor, Matthew R. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812167/
https://www.ncbi.nlm.nih.gov/pubmed/24205113
http://dx.doi.org/10.1371/journal.pone.0078104

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